Canonical Allele Identifier: CA1845639623

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648786_34648796delinsCACTGGTTAGT , CM000671.2:g.34648786_34648796delinsCACTGGTTAGT	GRCh38
NC_000009.11:g.34648783_34648793delinsCACTGGTTAGT , CM000671.1:g.34648783_34648793delinsCACTGGTTAGT	GRCh37
NC_000009.10:g.34638783_34638793delinsCACTGGTTAGT	NCBI36
NG_009029.1:g.7149_7159delinsCACTGGTTAGT
NG_028966.1:g.1602_1612delinsCACTGGTTAGT
NG_009029.2:g.7198_7208delinsCACTGGTTAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*300_*310delinsCACTGGTTAGT	ENSP00000509954.1:n.*300_*310delinsCACTGG...
ENST00000378842.8:c.712_722delinsCACTGGTTAGT MANE Select	ENSP00000368119.4:p.His238=
ENST00000378842.7:c.712_722delinsCACTGGTTAGT	ENSP00000368119.3:p.His238=
ENST00000450095.6:c.385_395delinsCACTGGTTAGT	ENSP00000401956.2:p.His129=
ENST00000473506.6:c.*300_*310delinsCACTGGTTAGT	ENSP00000432839.2:n.*300_*310delinsCACTGG...
ENST00000473529.5:n.871_881delinsCACTGGTTAGT
ENST00000487381.5:n.1402_1412delinsCACTGGTTAGT
ENST00000489643.6:n.792_802delinsCACTGGTTAGT
ENST00000554085.5:c.*456_*466delinsCACTGGTTAGT	ENSP00000450419.1:n.*456_*466delinsCACTGG...
ENST00000554550.5:c.*332_*342delinsCACTGGTTAGT	ENSP00000451435.1:n.*332_*342delinsCACTGG...
ENST00000554638.5:n.1184_1194delinsCACTGGTTAGT
ENST00000555020.5:n.1173_1183delinsCACTGGTTAGT
ENST00000555086.5:n.716_726delinsCACTGGTTAGT
ENST00000555754.1:n.57_67delinsCACTGGTTAGT
ENST00000556244.1:c.699_709delinsCACTGGTTAGT
ENST00000556278.1:c.432+330_432+340delinsCACTGGTTAGT	ENSP00000451792.1:n.432+330_432+340delins...
ENST00000557706.5:n.1274_1284delinsCACTGGTTAGT
NM_000155.3:c.712_722delinsCACTGGTTAGT	NP_000146.2:p.His238=
NM_001258332.1:c.385_395delinsCACTGGTTAGT	NP_001245261.1:p.His129=
NM_000155.4:c.712_722delinsCACTGGTTAGT MANE Select	NP_000146.2:p.His238=
NM_001258332.2:c.385_395delinsCACTGGTTAGT	NP_001245261.1:p.His129=